Canonical Allele Identifier: CA10633882

Gene: JAK2 INSL6

Linked Data

• ClinVar Variation Id: 367154
• ClinVar RCV Id: RCV000297888
• dbSNP Id: rs139964957
• gnomAD v2: 9-5128080-TTG-T
• gnomAD v3: 9-5128080-TTG-T
• gnomAD v4: 9-5128080-TTG-T
• COSMIC: COSN20106018 ; COSN20106019
• MyVariant Identifiers: chr9:g.5128120_5128121del (hg19) ; chr9:g.5128087_5128088del (hg19) ; chr9:g.5128081_5128082del (hg19) ; chr9:g.5128120_5128121del (hg38) ; chr9:g.5128087_5128088del (hg38) ; chr9:g.5128081_5128082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5128120_5128121del , CM000671.2:g.5128120_5128121del	GRCh38
NC_000009.11:g.5128120_5128121del , CM000671.1:g.5128120_5128121del	GRCh37
NC_000009.10:g.5118120_5118121del	NCBI36
NG_009904.1:g.147876_147877del , LRG_612:g.147876_147877del
NG_046969.1:g.62629_62630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.*1329_*1330del (JAK2) MANE Select	ENSP00000371067.4:n.*1329_*1330del
ENST00000649639.1:c.*11-3571_*11-3570del (INSL6)	ENSP00000497955.1:n.*11-3571_*11-3570del
ENST00000381652.3:c.*1329_*1330del (JAK2)	ENSP00000371067.3:n.*1329_*1330del
NM_004972.3:c.*1329_*1330del , LRG_612t1:c.*1329_*1330del (JAK2)	NP_004963.1:n.*1329_*1330del
XM_011517701.1:c.376+36097_376+36098del (INSL6)	XP_011516003.1:n.376+36097_376+36098del
XM_011517702.1:c.376+36097_376+36098del (INSL6)	XP_011516004.1:n.376+36097_376+36098del
XR_929169.1:n.484+36097_484+36098del (INSL6)
NM_001322194.1:c.*1329_*1330del (JAK2)	NP_001309123.1:n.*1329_*1330del
NM_001322195.1:c.*1329_*1330del (JAK2)	NP_001309124.1:n.*1329_*1330del
NM_001322196.1:c.*1329_*1330del (JAK2)	NP_001309125.1:n.*1329_*1330del
NM_001322198.1:c.*1329_*1330del (JAK2)	NP_001309127.1:n.*1329_*1330del
NM_001322199.1:c.*1329_*1330del (JAK2)	NP_001309128.1:n.*1329_*1330del
NM_001322204.1:c.*1329_*1330del (JAK2)	NP_001309133.1:n.*1329_*1330del
XM_011517702.3:c.376+36097_376+36098del (INSL6)	XP_011516004.1:n.376+36097_376+36098del
NM_004972.4:c.*1329_*1330del (JAK2) MANE Select	NP_004963.1:n.*1329_*1330del
NM_001322194.2:c.*1329_*1330del (JAK2)	NP_001309123.1:n.*1329_*1330del
NM_001322195.2:c.*1329_*1330del (JAK2)	NP_001309124.1:n.*1329_*1330del
NM_001322196.2:c.*1329_*1330del (JAK2)	NP_001309125.1:n.*1329_*1330del
NM_001322198.2:c.*1329_*1330del (JAK2)	NP_001309127.1:n.*1329_*1330del
NM_001322199.2:c.*1329_*1330del (JAK2)	NP_001309128.1:n.*1329_*1330del
NM_001322204.2:c.*1329_*1330del (JAK2)	NP_001309133.1:n.*1329_*1330del
NR_169763.1:n.5212_5213del (JAK2)
NR_169764.1:n.5129_5130del (JAK2)